Variant report

Variant	nsv1002032
Chromosome Location	chr3:143848755-144065468
allele	n/a
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:719)
CpG islands
(count:183)
Chromatin interactive
region (count:60)
LncRNA
region (count:1)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

(count:719 , 50 per page) page: 1 2 3 4 5 6 7 ... 15

No.	Transcrition factor	Chromosome Location	Cell Line	Cell type	Cell Stage	Matched TF binding sites
1	ARID3A	chr3:143880755-143881509	HepG2	liver:	n/a	chr3:143881380-143881396
2	ATF2	chr3:144013376-144014503	GM12878	blood:	n/a	n/a
3	ATF2	chr3:144013394-144014434	GM12878	blood:	n/a	n/a
4	ATF2	chr3:143848494-143849137	GM12878	blood:	n/a	n/a
5	ATF2	chr3:143848478-143849143	GM12878	blood:	n/a	n/a
6	BATF	chr3:144007957-144008191	GM12878	blood:	n/a	n/a
7	BATF	chr3:144013492-144013785	GM12878	blood:	n/a	n/a
8	BATF	chr3:144015695-144015975	GM12878	blood:	n/a	n/a
9	BATF	chr3:143848423-143849121	GM12878	blood:	n/a	n/a
10	BATF	chr3:144013981-144014356	GM12878	blood:	n/a	n/a
11	BATF	chr3:143848617-143849040	GM12878	blood:	n/a	n/a
12	BATF	chr3:144015688-144015947	GM12878	blood:	n/a	n/a
13	BATF	chr3:144013488-144013758	GM12878	blood:	n/a	n/a
14	BATF	chr3:144013966-144014424	GM12878	blood:	n/a	n/a
15	BCL11A	chr3:144015708-144016008	GM12878	blood:	n/a	n/a
16	BCL11A	chr3:144013972-144014361	GM12878	blood:	n/a	n/a
17	BCL11A	chr3:144013477-144013896	GM12878	blood:	n/a	n/a
18	BCL11A	chr3:144013523-144013694	GM12878	blood:	n/a	n/a
19	BCL11A	chr3:143848485-143849120	GM12878	blood:	n/a	n/a
20	BCL11A	chr3:143848674-143849066	GM12878	blood:	n/a	n/a
21	BCL11A	chr3:144014007-144014300	GM12878	blood:	n/a	n/a
22	BCL3	chr3:144013975-144014412	GM12878	blood:	n/a	n/a
23	BCL3	chr3:144013510-144013878	GM12878	blood:	n/a	n/a
24	BCL3	chr3:143848594-143849036	GM12878	blood:	n/a	n/a
25	BCLAF1	chr3:144013974-144014372	GM12878	blood:	n/a	n/a
26	BCLAF1	chr3:144013490-144013836	GM12878	blood:	n/a	n/a
27	BCLAF1	chr3:144013925-144014474	GM12878	blood:	n/a	n/a
28	BHLHE40	chr3:144014030-144014341	GM12878	blood:	n/a	n/a
29	CCNT2	chr3:143881095-143881198	K562	blood:	n/a	n/a
30	CEBPB	chr3:143992941-143993246	A549	lung:	n/a	chr3:143993110-143993121
31	CEBPB	chr3:143848481-143849203	GM12878	blood:	n/a	n/a
32	CEBPB	chr3:143897453-143897816	A549	lung:	n/a	chr3:143897627-143897636 chr3:143897626-143897637 chr3:143897627-143897636 chr3:143897627-143897636
33	CEBPB	chr3:143906424-143906761	HepG2	liver:	n/a	chr3:143906601-143906612 chr3:143906603-143906612
34	CEBPB	chr3:143906399-143906788	IMR90	lung:	n/a	chr3:143906601-143906612 chr3:143906603-143906612
35	CEBPB	chr3:143897490-143897872	MCF-7	breast:	n/a	chr3:143897627-143897636 chr3:143897626-143897637 chr3:143897627-143897636 chr3:143897627-143897636
36	CEBPB	chr3:144005485-144005709	A549	lung:	n/a	chr3:144005533-144005544 chr3:144005531-144005542
37	CEBPB	chr3:143897462-143897823	H1-hESC	embryonic stem cell:	n/a	chr3:143897627-143897636 chr3:143897626-143897637 chr3:143897627-143897636 chr3:143897627-143897636
38	CEBPB	chr3:143897551-143897790	A549	lung:	n/a	chr3:143897627-143897636 chr3:143897626-143897637 chr3:143897627-143897636 chr3:143897627-143897636
39	CEBPB	chr3:144042956-144043281	HepG2	liver:	n/a	chr3:144043113-144043124
40	CEBPB	chr3:144013448-144014495	GM12878	blood:	n/a	n/a
41	CEBPB	chr3:143880952-143881393	IMR90	lung:	n/a	n/a
42	CEBPB	chr3:143866776-143866979	HepG2	liver:	n/a	chr3:143866817-143866828
43	CEBPB	chr3:143897451-143897814	HepG2	liver:	n/a	chr3:143897627-143897636 chr3:143897626-143897637 chr3:143897627-143897636 chr3:143897627-143897636
44	CEBPB	chr3:143992939-143993236	IMR90	lung:	n/a	chr3:143993110-143993121
45	CEBPB	chr3:143991644-143991933	ECC-1	luminal epithelium:	n/a	n/a
46	CEBPB	chr3:143897455-143897752	K562	blood:	n/a	chr3:143897627-143897636 chr3:143897626-143897637 chr3:143897627-143897636 chr3:143897627-143897636
47	CEBPB	chr3:143971777-143972014	MCF-7	breast:	n/a	chr3:143971856-143971869
48	CEBPB	chr3:143897417-143897862	A549	lung:	n/a	chr3:143897627-143897636 chr3:143897626-143897637 chr3:143897627-143897636 chr3:143897627-143897636
49	CEBPB	chr3:144042912-144043369	HCT-116	colon:	n/a	chr3:144043113-144043124
50	CEBPB	chr3:143897454-143897839	ECC-1	luminal epithelium:	n/a	chr3:143897627-143897636 chr3:143897626-143897637 chr3:143897627-143897636 chr3:143897627-143897636

(count:183 , 50 per page) page: 1 2 3 4

No.	Chromosome Location	Cell Line	Cell type	Cell Stage
1	chr3:144064632-144064682	ovcar-3	ovarian:	n/a
2	chr3:143993048-143993098	MCF-7	breast:	n/a
3	chr3:143993048-143993098	AG10803	skin:	n/a
4	chr3:143861209-143861259	U87	brain:	n/a
5	chr3:143993048-143993098	ECC-1	luminal epithelium:	n/a
6	chr3:143861209-143861259	SKMC	muscle:	n/a
7	chr3:143861209-143861259	K562	blood:	n/a
8	chr3:143993048-143993098	ProgFib	skin:	n/a
9	chr3:143861209-143861259	HepG2	liver:	n/a
10	chr3:144064632-144064682	ProgFib	skin:	n/a
11	chr3:143993048-143993098	HCM	heart:	n/a
12	chr3:143993048-143993098	HCT-116	colon:	n/a
13	chr3:143861209-143861259	Jurkat	blood:	n/a
14	chr3:143861209-143861259	ECC-1	luminal epithelium:	n/a
15	chr3:143861209-143861259	T-47D	breast:	n/a
16	chr3:143993048-143993098	Jurkat	blood:	n/a
17	chr3:143993048-143993098	NH-A	brain:	n/a
18	chr3:143993048-143993098	HRE	kidney:	n/a
19	chr3:144064632-144064682	HRCEpiC	kidney:	n/a
20	chr3:143993048-143993098	BJ	skin:	n/a
21	chr3:143993048-143993098	SAEC	small airway:	n/a
22	chr3:143993048-143993098	SKMC	muscle:	n/a
23	chr3:144064632-144064682	GM12878	blood:	n/a
24	chr3:143861209-143861259	ovcar-3	ovarian:	n/a
25	chr3:143993048-143993098	HL-60	blood:	n/a
26	chr3:143861209-143861259	MCF10A-Er-Src	breast:	n/a
27	chr3:144064632-144064682	H1-hESC	embryonic stem cell:	embryo
28	chr3:143993048-143993098	NHDF-neo	bronchial:	n/a
29	chr3:144064632-144064682	HAEpiC	amniotic membrane:	n/a
30	chr3:144064632-144064682	CMK	blood:	n/a
31	chr3:144064632-144064682	Jurkat	blood:	n/a
32	chr3:143861209-143861259	HUVEC	blood vessel:	n/a
33	chr3:144064632-144064682	K562	blood:	n/a
34	chr3:143993048-143993098	Caco-2	colon:	n/a
35	chr3:143993048-143993098	SK-N-SH_RA	brain:	n/a
36	chr3:143861209-143861259	HPAEpiC	pulmonary alveolar:	n/a
37	chr3:144064632-144064682	ECC-1	luminal epithelium:	n/a
38	chr3:143861209-143861259	HEK293	kidney:	embryo
39	chr3:143861209-143861259	SK-N-MC	brain:	n/a
40	chr3:143861209-143861259	HAEpiC	amniotic membrane:	n/a
41	chr3:143861209-143861259	GM12878	blood:	n/a
42	chr3:144064632-144064682	A549	lung:	n/a
43	chr3:144064632-144064682	LNCaP	prostate:	n/a
44	chr3:143861209-143861259	AG04449	skin:	fetal
45	chr3:143861209-143861259	HCT-116	colon:	n/a
46	chr3:144064632-144064682	Hepatocyte	liver:	n/a
47	chr3:144064632-144064682	AoSMC	blood vessel:	n/a
48	chr3:143993048-143993098	AG09309	skin:	n/a
49	chr3:143993048-143993098	GM12878	blood:	n/a
50	chr3:143861209-143861259	AG09319	gingival:	n/a

(count:60 , 50 per page) page: 1 2

No.	Distal block	Cell Line	Cell type
1	chr3:143691791..143694005-chr3:143990028..143992353,2	K562	blood:
2	chr3:143962916..143965594-chr3:143970666..143973506,3	MCF-7	breast:
3	chr3:143890771..143894320-chr3:143898037..143901332,4	MCF-7	breast:
4	chr3:143689793..143693071-chr3:143879753..143882837,6	MCF-7	breast:
5	chr3:143689712..143692723-chr3:144026505..144028595,3	MCF-7	breast:
6	chr3:144058521..144060578-chr3:144061282..144062889,2	K562	blood:
7	chr3:143940644..143942210-chr3:144039456..144041845,2	MCF-7	breast:
8	chr3:143690773..143693147-chr3:144024947..144027838,2	K562	blood:
9	chr3:143976073..143978906-chr3:143983000..143985910,2	K562	blood:
10	chr3:144060304..144063071-chr3:144063118..144065175,2	K562	blood:
11	chr3:143852522..143854486-chr3:143858842..143860873,2	K562	blood:
12	chr3:143886285..143888723-chr3:143892668..143894323,2	MCF-7	breast:
13	chr3:143849261..143851661-chr3:143853910..143857233,3	K562	blood:
14	chr3:143852522..143855348-chr3:143858842..143861138,3	K562	blood:
15	chr3:143902901..143904761-chr3:143930558..143932653,2	MCF-7	breast:
16	chr3:143976073..143978906-chr3:143983000..143985910,2	K562	blood:
17	chr3:143882905..143885862-chr3:143887105..143889283,2	MCF-7	breast:
18	chr3:144012906..144014762-chr3:144016607..144019319,2	MCF-7	breast:
19	chr3:143872336..143874000-chr3:143882246..143884179,2	K562	blood:
20	chr3:144058521..144060578-chr3:144061282..144062889,2	K562	blood:
21	chr3:144012906..144014762-chr3:144016607..144019319,2	MCF-7	breast:
22	chr3:143865202..143867000-chr3:143870211..143871810,2	K562	blood:
23	chr3:143886285..143888723-chr3:143892668..143894323,2	MCF-7	breast:
24	chr3:143985749..143987878-chr3:143995682..143998153,2	MCF-7	breast:
25	chr3:143892804..143894519-chr3:143897127..143900073,2	K562	blood:
26	chr3:143694158..143694846-chr3:143996996..143997942,2	MCF-7	breast:
27	chr3:143902901..143904761-chr3:143930558..143932653,2	MCF-7	breast:
28	chr3:144026496..144028084-chr3:144029746..144032575,2	MCF-7	breast:
29	chr19:18990145..18992533-chr3:143946835..143949727,2	MCF-7	breast:
30	chr12:53342265..53345092-chr3:144025098..144026936,2	MCF-7	breast:
31	chr3:144047302..144050208-chr3:144050986..144053451,2	K562	blood:
32	chr3:143851188..143852094-chr3:143864087..143864848,2	MCF-7	breast:
33	chr3:143862145..143864475-chr3:143867360..143869304,2	K562	blood:
34	chr3:143690687..143692253-chr3:144007125..144008743,2	MCF-7	breast:
35	chr3:144026496..144028084-chr3:144029746..144032575,2	MCF-7	breast:
36	chr3:143865202..143867000-chr3:143870211..143871810,2	K562	blood:
37	chr3:143892804..143894519-chr3:143897127..143900073,2	K562	blood:
38	chr3:143940644..143942210-chr3:144039456..144041845,2	MCF-7	breast:
39	chr3:143962916..143965594-chr3:143970666..143973506,3	MCF-7	breast:
40	chr3:143862145..143864475-chr3:143867360..143869304,2	K562	blood:
41	chr3:143852522..143854486-chr3:143858842..143860873,2	K562	blood:
42	chr3:143690098..143692740-chr3:143921809..143923787,2	MCF-7	breast:
43	chr3:143852522..143855348-chr3:143858842..143861138,3	K562	blood:
44	chr3:143851188..143852094-chr3:143864087..143864848,2	MCF-7	breast:
45	chr17:56707384..56710273-chr3:144036844..144039092,2	MCF-7	breast:
46	chr3:143849261..143851661-chr3:143853910..143857233,3	K562	blood:
47	chr3:143690547..143692210-chr3:143990164..143992308,2	MCF-7	breast:
48	chr12:53061288..53061963-chr3:143990811..143991640,2	MCF-7	breast:
49	chr3:144047302..144050208-chr3:144050986..144053451,2	K562	blood:
50	chr3:143892267..143895225-chr3:144092173..144094543,2	MCF-7	breast:

(count:1 , 50 per page) page: 1

No.	lncRNA name	Chromosome Location	lncRNA alias
1	lnc-C3orf58-1	chr3:143936262-143938475	NONHSAT092535

No data

Variant related genes	Relation type
RNA5SP144	TF binding region
RNA5SP144	CpG island
ENSG00000269694	chromatin interactions
ENSG00000181744	chromatin interactions
ENSG00000170421	chromatin interactions
ENSG00000212195	chromatin interactions
ENSG00000222778	chromatin interactions
ENSG00000111057	chromatin interactions

Extended variants
information (count: 5644 )
Associated
traits (count: 58 )

Variant overlapped rSNPs/rCNVs (count:5644 , 50 per page) page: 1 2 3 4 5 6 7 ... 113

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	rs6788669	chr3:143848755-143848756	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
2	rs545909090	chr3:143848780-143848781	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
3	rs530095769	chr3:143848795-143848796	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
4	rs116311641	chr3:143848817-143848818	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
5	rs12152433	chr3:143848820-143848821	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
6	rs138967070	chr3:143848838-143848839	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
7	rs17606621	chr3:143848861-143848862	Weak transcription Enhancers	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
8	rs142857592	chr3:143848874-143848875	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
9	rs377224924	chr3:143848882-143848883	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
10	rs191564798	chr3:143848885-143848886	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
11	rs567743650	chr3:143848889-143848890	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
12	rs535075642	chr3:143848909-143848910	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
13	rs373428877	chr3:143848969-143848970	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
14	rs553313420	chr3:143848983-143848984	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
15	rs572052644	chr3:143848998-143848999	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
16	rs182437030	chr3:143849082-143849083	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
17	rs73145654	chr3:143849117-143849118	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
18	rs77306392	chr3:143849182-143849183	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
19	rs543380735	chr3:143849212-143849213	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
20	rs561962396	chr3:143849274-143849275	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
21	rs374439572	chr3:143849397-143849398	Weak transcription ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
22	rs530155549	chr3:143849412-143849413	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
23	rs192351968	chr3:143849454-143849455	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
24	rs16855002	chr3:143849509-143849510	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	LD-proxies of rSNP Overlapped rCNV	n/a
25	rs527804250	chr3:143849533-143849534	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
26	rs552602684	chr3:143849566-143849567	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
27	rs541207744	chr3:143849592-143849593	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
28	rs570988813	chr3:143849593-143849594	Weak transcription Enhancers ZNF genes & repeats	n/a	n/a	Overlapped CNVs	n/a
29	rs531910019	chr3:143849619-143849620	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
30	rs184949430	chr3:143849681-143849682	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
31	rs559832546	chr3:143849707-143849708	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
32	rs568426050	chr3:143849718-143849719	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
33	rs535706443	chr3:143849719-143849720	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
34	rs111463452	chr3:143849731-143849732	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
35	rs558753830	chr3:143849742-143849743	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
36	rs553376621	chr3:143849758-143849759	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
37	rs565636093	chr3:143849761-143849762	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
38	rs374336690	chr3:143849863-143849864	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
39	rs138117290	chr3:143849879-143849880	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
40	rs149591265	chr3:143849968-143849969	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
41	rs576205966	chr3:143850048-143850049	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
42	rs36052454	chr3:143850052-143850053	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
43	rs543631379	chr3:143850060-143850061	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
44	rs80213220	chr3:143850103-143850104	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
45	rs77449176	chr3:143850104-143850105	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
46	rs376133636	chr3:143850134-143850135	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
47	rs555559233	chr3:143850135-143850136	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
48	rs573985951	chr3:143850136-143850137	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
49	rs371041317	chr3:143850150-143850151	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a
50	rs369875540	chr3:143850158-143850159	Weak transcription Enhancers	n/a	n/a	Overlapped CNVs	n/a

Variant related diseases (count:58)

Disease	PMID	Source
Basal cell lymphoma	17053054	CNVD
Esophageal cancer	21851588	CNVD
Uveal melanoma	21693616	CNVD
Glioblastoma multiforme	21080181	CNVD
Retinoblastoma	21504564	CNVD
Medulloblastoma	21979893	CNVD
Thoracic aortic aneurysm	21092924	CNVD
Intellectual disability	22102821	CNVD
Autism	22495311	CNVD
Lung cancer	18438408	CNVD
Congenital diaphragmatic hernia	21085971	CNVD
Cervical cancer	21062161	CNVD
Squamous cell cancer	20885788	CNVD
Melanoma	18172304	CNVD
T-cell prolymphocytic leukemia	19278963	CNVD
Bipolar disorder	18458673	CNVD
Breast cancer	22032731	CNVD
Breast cancer	16461572	CNVD
Neuroblastoma	17533364	CNVD
Cervical Cancer	21857958	CNVD
Melanoma	21693616	CNVD
Lung cancer	21426551	CNVD
Cancer	21637783	CNVD
Cervical cancer	21063398	CNVD
Esophageal squamous carcinoma	21637470	CNVD
Liposarcoma	21253554	CNVD
Oral cancer	21386901	CNVD
Renal cell carcinoma	19461508	CNVD
Cancer	22065749	CNVD
Endometrial cancer	22040021	CNVD
Breast cancer	21264507	CNVD
Chronic lymphocytic leukemia	21546498	CNVD
microdeletion syndrome	22180640	CNVD
Basal cell lymphoma	21115979	CNVD
Ovarian cancer	22174824	CNVD
Colorectal cancer	18645599	CNVD
head and neck squamous cell carcinoma	17671120	CNVD
High-grade prostatic intraepithelial neoplasia	16573809	CNVD
Hepatocellular carcinoma	16750200	CNVD
Esophageal squamous carcinoma	18350619	CNVD
Myelodysplastic syndrome	21251322	CNVD
Blepharophimosis-ptosis-epicanthus inversus syndrome	22067867	CNVD
small cell lung cancer	20016488	CNVD
Acute lymphoblastic leukemia	21339820	CNVD
abnormal development	18461090	CNVD
Cancer	21129771	CNVD
Ovarian cancer	23621864	CNVD
Breast cancer	21364760	CNVD
Mental retardation	17847001	CNVD
Basal cell lymphoma	17170743	CNVD
Adrenocortical carcinoma	18281524	CNVD
Breast cancer	21509527	CNVD
Congenital anomalies of the kidney and urinary tract	20605837	CNVD
Breast cancer	22522925	CNVD
Pancreatic cancer	17952125	CNVD
Non-syndromic sensorineural hearing loss	22037309	CNVD
Gastrointestinal stromal cancer	20818650	CNVD
Non-syndromic sensorineural hearing loss	19587683	CNVD

Chromatin state (count:550 , 50 per page) page: 1 2 3 4 5 6 7 ... 11

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr3:143847600-143849400	Weak transcription	Brain Hippocampus Middle	brain
2	chr3:143847600-143855200	Weak transcription	Brain Cingulate Gyrus	brain
3	chr3:143847600-143861200	Weak transcription	Brain Anterior Caudate	brain
4	chr3:143847800-143849200	Weak transcription	Brain Inferior Temporal Lobe	brain
5	chr3:143847800-143849200	Enhancers	GM12878-XiMat	blood
6	chr3:143847800-143854400	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
7	chr3:143848000-143848800	Enhancers	HSMM	muscle
8	chr3:143848600-143849200	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
9	chr3:143849200-143849600	ZNF genes & repeats	Brain Inferior Temporal Lobe	brain
10	chr3:143849400-143850400	Enhancers	Brain Hippocampus Middle	brain
11	chr3:143849600-143850200	Weak transcription	Brain Inferior Temporal Lobe	brain
12	chr3:143854000-143854600	Enhancers	iPS-15b Cell Line	embryonic stem cell
13	chr3:143854200-143856200	Enhancers	iPS-18 Cell Line	embryonic stem cell
14	chr3:143854400-143855200	Enhancers	iPS-20b Cell Line	embryonic stem cell
15	chr3:143854400-143855800	Enhancers	Cortex derived primary cultured neurospheres	brain
16	chr3:143854400-143856200	Enhancers	H9 Derived Neuronal Progenitor Cultured Cells	ES cell derived
17	chr3:143854400-143856400	Enhancers	H9 Derived Neuron Cultured Cells	ES cell derived
18	chr3:143855200-143855600	Enhancers	Brain Inferior Temporal Lobe	brain
19	chr3:143855200-143855800	Enhancers	HUES48 Cell Line	embryonic stem cell
20	chr3:143855200-143855800	Enhancers	Ganglion Eminence derived primary cultured neurospheres	brain
21	chr3:143855600-143855800	Enhancers	H1 Cell Line	embryonic stem cell
22	chr3:143855600-143855800	Weak transcription	iPS-20b Cell Line	embryonic stem cell
23	chr3:143855800-143856000	Weak transcription	HUES48 Cell Line	embryonic stem cell
24	chr3:143856400-143861000	Weak transcription	H9 Derived Neuron Cultured Cells	ES cell derived
25	chr3:143857200-143858400	ZNF genes & repeats	HUES6 Cell Line	embryonic stem cell
26	chr3:143858000-143860600	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
27	chr3:143858800-143859000	Enhancers	Esophagus	oesophagus
28	chr3:143858800-143859000	ZNF genes & repeats	Fetal Stomach	stomach
29	chr3:143859000-143860800	Weak transcription	Fetal Stomach	stomach
30	chr3:143859600-143859800	Enhancers	Fetal Thymus	thymus
31	chr3:143859600-143860000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
32	chr3:143859800-143860400	Weak transcription	Fetal Thymus	thymus
33	chr3:143859800-143860600	Enhancers	Mesenchymal Stem Cell Derived Chondrocyte Cultured Cells	embryonic stem cell
34	chr3:143860000-143860400	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
35	chr3:143860200-143860800	Enhancers	Colon Smooth Muscle	Colon
36	chr3:143860400-143860600	Enhancers	Breast Myoepithelial Primary Cells	Breast
37	chr3:143860400-143861000	Enhancers	IMR90 fetal lung fibroblasts Cell Line	lung
38	chr3:143860400-143861200	Enhancers	Fetal Thymus	thymus
39	chr3:143860600-143860800	Enhancers	Muscle Satellite Cultured Cells	--
40	chr3:143860600-143860800	Enhancers	Foreskin Fibroblast Primary Cells skin01	Skin
41	chr3:143860600-143861000	Enhancers	Bone Marrow Derived Cultured Mesenchymal Stem Cells	Bone marrow
42	chr3:143860600-143861000	Flanking Active TSS	Breast Myoepithelial Primary Cells	Breast
43	chr3:143860600-143861000	Enhancers	Fetal Intestine Large	intestine
44	chr3:143860600-143861000	Enhancers	Stomach Smooth Muscle	stomach
45	chr3:143860600-143861000	Enhancers	Osteobl	bone
46	chr3:143860600-143861200	Enhancers	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
47	chr3:143860600-143861200	Enhancers	Adipose Derived Mesenchymal Stem Cell Cultured Cells	ES cell derived
48	chr3:143860600-143861200	Enhancers	HSMM	muscle
49	chr3:143860600-143861200	Enhancers	NHEK	skin
50	chr3:143860600-143861400	Enhancers	HUES48 Cell Line	embryonic stem cell

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